Methylmalonyl-CoA mutase deficiency
From Wikipedia, the free encyclopedia
| Methylmalonyl-CoA mutase deficiency | |
|---|---|
| Classification and external resources | |
| OMIM | 251000 |
| DiseasesDB | 29509 |
Methylmalonyl-CoA mutase deficiency ("MUT") is an inborn error of organic acid metabolism. It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.
Symptoms include: failure to thrive, vomiting, dehydration, developmental delay, and seizures.
An accumulation of propionyl CoA, a substrate for a TCA cycle enzyme, and of citrate synthase, leading to an accumulation of methyl citrate (a TCA toxin) accompanies the lack of methylmalonyl CoA mutase.
It is a form of Methylmalonic acidemia.
[edit] See also
[edit] External links
- Methylmalonyl-CoA mutase deficiency at NLM Genetics Home Reference
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